Gaucher disease is a lysosomal storage disease of autosomal recessive inheritance that is caused by a deficiency of the enzyme glucocerebrosidase. This deficiency results in accumulation of the enzyme’s main substrate in the lysosomes of macrophages, mainly in the spleen, liver, and bone marrow. In more severe cases it can affect the lung, kidneys, and central nervous system. There are two main treatments available for patients with Gaucher disease: enzyme replacement therapy and inhibition of substrate synthesis. The main enzyme replacement therapy used in Brazil is imiglucerase, an analog of the human β-glucocerebrosidase enzyme. Imiglucerase is produced by recombinant DNA technology using a cell culture derived from the Chinese hamster ovary. It has 497 amino acids and differs from the endogenous enzyme by an amino acid at position 495, where histidine is replaced by arginine. The objective of the study was to analyze the survival of patients treated for Gaucher disease with imiglucerase in Brazil from 2000 to 2015.

We constructed a retrospective cohort study of patients with Gaucher disease who received imiglucerase through the Brazilian National Health System from 2000 to 2015 using a national database created from the linkage of administrative databases.

A total of 1,241 patients who received imiglucerase were included. The overall survival rates at one, ten, and 15 years were 98.7 percent (95% confidence interval [CI]: 98.1, 99.4), 92.3 percent (95% CI: 90.2, 94.4), and 89.4 percent (95% CI: 85.6, 93.3), respectively.

Our findings advance the understanding of the profile, survival, and risk factors of people with Gaucher disease, adding new data to the discussion regarding pharmaceutical therapies and patient care, and providing data for the development of new public health policies for the use of advanced, high-cost drugs for rare diseases.